Abstract
Pulmonary lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that targets women during their reproductive years. A confident diagnosis can often be based on clinical grounds, but diagnostic certainty requires pathological analysis. Although surgical lung biopsy is considered the gold standard for obtaining tissue in patients with diffuse lung disease, it is also associated with higher morbidity and mortality than alternative, less invasive techniques. The objective of our study was to examine the utility of transbronchial biopsy in the diagnosis of LAM. We conducted two online surveys of over 1 000 LAM patients registered with the LAM Foundation who were accessible by email. Transbronchial biopsy specimens were subsequently collected and reviewed by an expert pathologist to validate the diagnosis. We found that transbronchial biopsy has a yield of approximately 60% in patients with LAM. We conclude that transbronchial biopsy may be a safe and effective method for establishing the diagnosis of LAM, obviating the need for surgical lung biopsy in more than half of LAM patients.
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References
McCormack FX. Lymphangioleiomyomatosis: a clinical update. Chest 2008; 133(2): 507–516
Travis WD, Colby TV, Corrin B, Shumosato Y, Brambilla E. Histological Typing of Lung and Pleural Tumors. Berlin: Springer. 1999
Travis WD, Brambilla E, Muller-Hermlink HK, Harris CC. Pathology and Genetics: Tumours of the Lung, Pleura, Thymus and Heart. Lyon: IARC. 2004
Karbowniczek M, Astrinidis A, Balsara BR, Testa JR, Lium JH, Colby TV, McCormack FX, Henske EP. Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. Am J Respir Crit Care Med 2003; 167(7): 976–982
Bittmann I, Dose TB, Müller C, Dienemann H, Vogelmeier C, Lohrs U. Lymphangioleiomyomatosis: recurrence after single lung transplantations. Hum Pathol 1997; 28(12): 1420–1423
Taveira-DaSilva AM, Steagall WK, Moss J. Lymphangioleiomyomatosis. Cancer Contr 2006; 13: 276–285
Almoosa KF, McCormack FX, Sahn SA. Pleural disease in lymphangioleiomyomatosis. Clin Chest Med 2006; 27(2): 355–368
Johnson SR, Tattersfield AE. Clinical experience of lymphangioleiomyomatosis in the UK. Thorax 2000; 55(12): 1052–1057
Johnson SR, Cordier JF, Lazor R, Cottin V, Costabel U, Harari S, Reynaud-Gaubert M, Boehler A, Brauner M, Popper H, Bonetti F, Kingswood C, Review Panel of the ERS LAM Task Force. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir J 2010; 35(1): 14–26
Young LR, Vandyke R, Gulleman PM, Inoue Y, Brown KK, Schmidt LS, Linehan WM, Hajjar F, Kinder BW, Trapnell BC, Bissler JJ, Franz DN, McCormack FX. Serum vascular endothelial growth factor-D prospectively distinguishes lymphangioleiomyomatosis from other diseases. Chest 2010; 138(3): 674–681
Hirama M, Atsuta R, Mitani K, Kumasaka T, Gunji Y, Sasaki S, Iwase A, Takahashi K, Seyama K. Lymphangioleiomyomatosis diagnosed by immunocytochemical and genetic analysis of lymphangioleiomyomatosis cell clusters found in chylous pleural effusion. Intern Med 2007; 46(18): 1593–1596
Andersen HA, Miller WE, Bernatz PE. Lung biopsy: transbronchoscopic, percutaneous, open. Surg Clin North Am 1973; 53(4): 785–793
Levin DC, Wicks AB, Ellis JH Jr. Transbronchial lung biopsy via the fiberoptic bronchoscope. Am Rev Respir Dis 1974; 110(1): 4–12
Mack MJ, Aronoff RJ, Acuff TE, Douthit MB, Bowman RT, Ryan WH. Present role of thoracoscopy in the diagnosis and treatment of diseases of the chest. Ann Thorac Surg 1992; 54(3): 403–408, discussion 407–409
Kreider ME, Hansen-Flaschen J, Ahmad NN, Rossman MD, Kaiser LR, Kucharczuk JC, Shrager JB. Complications of video-assisted thoracoscopic lung biopsy in patients with interstitial lung disease. Ann Thorac Surg 2007; 83(3): 1140–1144
Messika J, Parquin F, Puyo P, Sage E, Bonnette P, Rivaud E, Catherinot E, Couderc LJ, Chapelier A. Lung surgery in haematological patients: useful? hazardous? Rev Pneumol Clin 2011; 67(4): 220–225 (in French)
Quadrelli S, Lyons G, Ciallella L, Iotti A, Chertcoff J. Lung biopsy for the diagnosis of interstitial lung disease. Medicina (B Aires) 2007; 67(6 Pt 2): 691–697 (in Spanish)
Hanson RR, Zavala DC, Rhodes ML, Keim LW, Smith JD. Transbronchial biopsy via flexible fiberoptic bronchoscope; results in 164 patients. Am Rev Respir Dis 1976; 114(1): 67–72
Prakash UBS. Bronchoscopy. New York: Raven Press. 1994
Herf SM, Suratt PM, Arora NS. Deaths and complications associated with transbronchial lung biopsy. Am Rev Respir Dis 1977; 115(4): 708–711
Simpson FG, Arnold AG, Purvis A, Belfield PW, Muers MF, Cooke NJ. Postal survey of bronchoscopic practice by physicians in the United Kingdom. Thorax 1986; 41(4): 311–317
Frazier WD, Pope TL Jr, Findley LJ. Pneumothorax following transbronchial biopsy. Low diagnostic yield with routine chest roentgenograms. Chest 1990; 97(3): 539–540
de Fenoyl O, Capron F, Lebeau B, Rochemaure J. Transbronchial biopsy without fluoroscopy: a five year experience in outpatients. Thorax 1989; 44(11): 956–959
Anders GT, Johnson JE, Bush BA, Matthews JI. Transbronchial biopsy without fluoroscopy. A seven-year perspective. Chest 1988; 94(3): 557–560
Hernández Blasco L, Sánchez Hernández IM, Villena Garrido V, de Miguel Poch E, Nuñez Delgado M, Alfaro Abreu J. Safety of the transbronchial biopsy in outpatients. Chest 1991; 99(3): 562–565
Schwarz MI, King TE. Interstitial Lung Disease. Toronto, Ont.: B.C. Decker. 1988
Bonetti F, Chiodera PL, Pea M, Martignoni G, Bosi F, Zamboni G, Mariuzzi GM. Transbronchial biopsy in lymphangiomyomatosis of the lung. HMB45 for diagnosis. Am J Surg Pathol 1993; 17(11): 1092–1102
Hayashida M, Seyama K, Inoue Y, Fujimoto K, Kubo K; Respiratory Failure Research Group of the Japanese Ministry of Health, Labor, and Welfare. The epidemiology of lymphangioleiomyomatosis in Japan: a nationwide cross-sectional study of presenting features and prognostic factors. Respirology 2007; 12(4): 523–530
Chu SC, Horiba K, Usuki J, Avila NA, Chen CC, Travis WD, Ferrans VJ, Moss J. Comprehensive evaluation of 35 patients with lymphangioleiomyomatosis. Chest 1999; 115(4): 1041–1052
Kitaichi M, Nishimura K, Itoh H, Izumi T. Pulmonary lymphangioleiomyomatosis: a report of 46 patients including a clinicopathologic study of prognostic factors. Am J Respir Crit Care Med 1995; 151(2 Pt 1): 527–533
Høie J, Jørstad SO, Odegaard A. Pulmonary lymphangioleiomyomatosis. Tidsskr Nor Laegeforen 1995; 115(10): 1230–1232
Benden C, Rea F, Behr J, Corris PA, Reynaud-Gaubert M, Stern M, Speich R, Boehler A. Lung transplantation for lymphangioleiomyomatosis: the European experience. J Heart Lung Transplant 2009; 28(1): 1–7
Seyama K, Kira S, Takahashi H, Ohnishi M, Kodama Y, Dambara T, Kobayashi J, Kitamura S, Fukuchi Y. Longitudinal follow-up study of 11 patients with pulmonary lymphangioleiomyomatosis: diverse clinical courses of LAM allow some patients to be treated without anti-hormone therapy. Respirology 2001; 6(4): 331–340
Lim KE, Tsai YH, Hsu Yl Y, Hsu Wc W. Pulmonary lymphangioleiomyomatosis. High-resolution CT findings in 11 patients and compared with the literature. Clin Imaging 2004; 28(1): 1–5
Taylor JR, Ryu J, Colby TV, Raffin TA. Lymphangioleiomyomatosis. Clinical course in 32 patients. N Engl J Med 1990; 323(18): 1254–1260
Naalsund A, Johansen B, Foerster A, Kolbenstvedt A. When to suspect and how to diagnose pulmonary lymphangioleiomyomatosis. Respirology 1996; 1(3): 207–212
Torre O, Harari S. The diagnosis of cystic lung diseases: a role for bronchoalveolar lavage and transbronchial biopsy? Respir Med 2010; 104(Suppl 1): S81–S85
Ye L, Jin M, Bai C. Clinical analysis of patients with pulmonary lymphangioleiomyomatosis (PLAM) in mainland China. Respir Med 2010; 104(10): 1521–1526
Chen F, Bando T, Fukuse T, Omasa M, Aoyama A, Hamakawa H, Fujinaga T, Shoji T, Sakai H, Hanaoka N, Wada H. Recurrent lymphangioleiomyomatosis after living-donor lobar lung transplantation. Transplant Proc 2006; 38(9): 3151–3153
Unger PD, Hoffman K, Thung SN, Pertsemlides D, Wolfe D, Kaneko M. HMB-45 reactivity in adrenal pheochromocytomas. Arch Pathol Lab Med 1992; 116(2): 151–153
Serrano Pardo R, Sotelo Rodríguez MT, Alvarez Martínez C, Ballestin Carcavilla C, Larrú Cabrero E. Pulmonary lymphangioleiomyomatosis (LAM). Diagnostic usefulness of immunohistochemical markers. Arch Bronconeumol 1998; 34(10): 509–511 (in Spanish)
Curley FJ, Johal JS, Burke ME, Fraire AE. Transbronchial lung biopsy: can specimen quality be predicted at the time of biopsy? Chest 1998; 113(4): 1037–1041
Chilosi M, Pea M, Martignoni G, Brunelli M, Gobbo S, Poletti V, Bonetti F. Cathepsin-k expression in pulmonary lymphangioleiomyomatosis. Mod Pathol 2009; 22(2): 161–166
Zhang X, Travis WD. Pulmonary lymphangioleiomyomatosis. Arch Pathol Lab Med 2010; 134(12): 1823–1828
Ferrans VJ, Yu ZX, Nelson WK, Valencia JC, Tatsuguchi A, Avila NA, Riemenschn W, Matsui K, Travis WD, Moss J. Lymphangioleiomyomatosis (LAM): a review of clinical and morphological features. J Nippon Med Sch 2000; 67(5): 311–329
McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K, Barker AF, Chapman JT, Brantly ML, Stocks JM, Brown KK, Lynch JP 3rd, Goldberg HJ, Young LR, Kinder BW, Downey GP, Sullivan EJ, Colby TV, McKay RT, Cohen MM, Korbee L, Taveira-DaSilva AM, Lee HS, Krischer JP, Trapnell BC; National Institutes of Health Rare Lung Diseases Consortium; MILES Trial Group. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 2011; 364(17): 1595–1606
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Meraj, R., Wikenheiser-Brokamp, K.A., Young, L.R. et al. Utility of transbronchial biopsy in the diagnosis of lymphangioleiomyomatosis. Front. Med. 6, 395–405 (2012). https://doi.org/10.1007/s11684-012-0231-5
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DOI: https://doi.org/10.1007/s11684-012-0231-5